Loeys-Dietz Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LDS4 MCID: LYS017 MIFTS: 49	Loeys-Dietz Syndrome 4 (LDS4) Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Loeys-Dietz Syndrome 4

MalaCards integrated aliases for Loeys-Dietz Syndrome 4:

Name: Loeys-Dietz Syndrome 4 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ⁶ ¹⁵ ⁷³

Lds4 ⁵⁷ ¹² ⁷⁵

Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations ⁵⁷ ¹²

Aortic and Cerebral Aneurysm with Arterial Tortuosity and Skeletal Manifestations ⁷⁵

Syndrome, Loeys-Dietz, Type 4 ⁴⁰

Loeys-Dietz Syndrome, Type 4 ¹³

Loeys-Dietz Syndrome Type 4 ⁵³

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
patients do not have ectopia lentis

HPO:

³²

loeys-dietz syndrome 4:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases Cardiovascular diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614816

Disease Ontology ¹² DOID:0070233

MedGen ⁴² C3553762 CN143719

MeSH ⁴⁴ D055947

UMLS ⁷³ C3553762

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Summaries for Loeys-Dietz Syndrome 4

UniProtKB/Swiss-Prot : ⁷⁵ Loeys-Dietz syndrome 4: An aortic aneurysm syndrome with widespread systemic involvement. LDS4 is characterized by arterial tortuosity, aortic dissection, intracranial aneurysm and subarachnoid hemorrhage, hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arachnodactyly, scoliosis, foot deformities, dural ectasia, joint hyperflexibility, and thin skin with easy bruising and striae.

MalaCards based summary : Loeys-Dietz Syndrome 4, also known as lds4, is related to loeys-dietz syndrome and multilocular clear cell renal cell carcinoma, and has symptoms including wrist sign and steinberg thumb sign. An important gene associated with Loeys-Dietz Syndrome 4 is TGFB2 (Transforming Growth Factor Beta 2), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. Affiliated tissues include skin, bone and eye, and related phenotypes are hypertelorism and high palate

Disease Ontology : ¹² A Loeys-Dietz syndrome that has material basis in heterozygous mutation in the TGFB2 gene on chromosome 1q41.

Description from OMIM: 614816

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Related Diseases for Loeys-Dietz Syndrome 4

Diseases in the Loeys-Dietz Syndrome family:

Loeys-Dietz Syndrome 1	Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3	Loeys-Dietz Syndrome 4
Loeys-Dietz Syndrome 5

Diseases related to Loeys-Dietz Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)

#	Related Disease	Score	Top Affiliating Genes
1	loeys-dietz syndrome	29.6	SMAD3 TGFB2 TGFB2-AS1 TGFB3 TGFBR1 TGFBR2
2	multilocular clear cell renal cell carcinoma	10.1	TGFB2 TGFB3
3	tuberculoid leprosy	10.1	TGFB2 TGFB3
4	hypertrophic scars	10.0	SMAD3 TGFB3
5	keloids	10.0	SMAD3 TGFB3
6	hypochondrogenesis	10.0	SMAD3 TGFB3
7	mitral valve disease	10.0	TGFB2 TGFB3
8	peyronie's disease	9.9	SMAD3 TGFB2 TGFB3
9	transient hypogammaglobulinemia	9.9	TGFBR1 TGFBR2
10	cutis laxa, autosomal recessive, type ic	9.9	TGFBR1 TGFBR2
11	tendinosis	9.9	TGFB2 TGFBR2
12	multiple self-healing squamous epithelioma	9.8	TGFBR1 TGFBR2
13	autosomal recessive cutis laxa type i	9.8	TGFBR1 TGFBR2
14	eisenmenger syndrome	9.8	TGFBR1 TGFBR2
15	transient hypogammaglobulinemia of infancy	9.8	TGFBR1 TGFBR2
16	marfan syndrome	9.7	TGFBR1 TGFBR2
17	aortic disease	9.7	TGFB2 TGFBR1 TGFBR2
18	familial thoracic aortic aneurysm and dissection	9.7	SMAD3 TGFBR1 TGFBR2
19	osteoporosis	9.6	SMAD3 TGFB2 TGFBR1
20	loeys-dietz syndrome 3	9.5	SMAD3 TGFB2 TGFBR1 TGFBR2
21	loeys-dietz syndrome 1	9.5	SMAD3 TGFB2 TGFBR1 TGFBR2
22	aortic aneurysm, familial thoracic 1	9.5	SMAD3 TGFB2 TGFBR1 TGFBR2
23	aortic aneurysm	9.5	SMAD3 TGFB2 TGFBR1 TGFBR2
24	pancreatic cancer	9.5	SMAD3 TGFB2 TGFBR1 TGFBR2

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 4:

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Symptoms & Phenotypes for Loeys-Dietz Syndrome 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Spine:
scoliosis
spondylolisthesis (rare)

Genitourinary External Genitalia Female:
inguinal hernia

Skeletal:
joint hyperflexibility
tall stature

Skeletal Hands:
arachnodactyly
steinberg thumb sign

Neurologic Central Nervous System:
dural ectasia

Head And Neck Mouth:
high-arched palate
broad or bifid uvula (in some patients)

Skin Nails Hair Skin:
easy bruising
skin striae

Chest Ribs Sternum Clavicles And Scapulae:
pectus deformity

Skeletal Pelvis:
protrusio acetabularis

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Face:
retrognathia

Cardiovascular Vascular:
aortic dissection
arterial tortuosity
aortic root aneurysm
cerebrovascular aneurysm (in some patients)
fusiform dilation and tortuosity of cerebrovascular arteries

Cardiovascular Heart:
mitral valve prolapse
bicuspid aortic valve (rare)

Skeletal Feet:
flat feet
club feet (in some patients)

Head And Neck Eyes:
hypertelorism (in some patients)
downslanting palpebral fissures (in some patients)

Skeletal Limbs:
wrist sign

Respiratory Lung:
emphysema (rare)
pneumothorax (rare)

Clinical features from OMIM:

614816

Human phenotypes related to Loeys-Dietz Syndrome 4:

³² (show all 22)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²	occasional (7.5%)	HP:0000316
2	high palate ³²		HP:0000218
3	scoliosis ³²		HP:0002650
4	inguinal hernia ³²		HP:0000023
5	pes planus ³²		HP:0001763
6	emphysema ³²	occasional (7.5%)	HP:0002097
7	retrognathia ³²		HP:0000278
8	joint hyperflexibility ³²		HP:0005692
9	bicuspid aortic valve ³²	occasional (7.5%)	HP:0001647
10	aortic dissection ³²		HP:0002647
11	talipes equinovarus ³²	occasional (7.5%)	HP:0001762
12	arachnodactyly ³²		HP:0001166
13	mitral valve prolapse ³²		HP:0001634
14	dural ectasia ³²		HP:0100775
15	downslanted palpebral fissures ³²	occasional (7.5%)	HP:0000494
16	spondylolisthesis ³²	occasional (7.5%)	HP:0003302
17	bruising susceptibility ³²		HP:0000978
18	tall stature ³²		HP:0000098
19	abnormality of the sternum ³²		HP:0000766
20	pneumothorax ³²	occasional (7.5%)	HP:0002107
21	arterial tortuosity ³²		HP:0005116
22	aortic root aneurysm ³²		HP:0002616

UMLS symptoms related to Loeys-Dietz Syndrome 4:

wrist sign, steinberg thumb sign

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

²⁶ (show all 48)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-104	10	TGFBR2
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-14	10	TGFB2
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-141	10	TGFB2
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-145	10	TGFBR2
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-153	10	TGFBR2
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-165	10	TGFBR1 TGFBR2
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-180	10	TGFBR1
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-20	10	TGFBR2
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-200	10	TGFBR1
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-22	10	TGFBR1
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-26	10	TGFB2
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-48	10	TGFBR2
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-59	10	TGFB2
14	Decreased shRNA abundance (Z-score < -2)	GR00366-A-60	10	TGFB2 TGFBR1 TGFBR2
15	Decreased shRNA abundance (Z-score < -2)	GR00366-A-65	10	TGFBR2
16	Decreased shRNA abundance (Z-score < -2)	GR00366-A-71	10	TGFB2
17	Decreased shRNA abundance (Z-score < -2)	GR00366-A-72	10	TGFB2
18	Decreased shRNA abundance (Z-score < -2)	GR00366-A-77	10	TGFBR1
19	Decreased shRNA abundance (Z-score < -2)	GR00366-A-84	10	TGFBR2
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	9.84	TGFB2
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.84	TGFB2 TGFBR1 TGFBR2
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	9.84	TGFB2
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.84	TGFBR2
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.84	TGFBR2
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	9.84	TGFBR2
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	9.84	TGFBR2
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-133	9.84	TGFB2
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	9.84	TGFB2
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.84	TGFBR1 TGFBR2
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	9.84	TGFBR2
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-162	9.84	TGFBR2
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-164	9.84	TGFBR2
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.84	TGFBR1
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	9.84	TGFBR2
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.84	TGFBR2
36	Increased shRNA abundance (Z-score > 2)	GR00366-A-196	9.84	TGFB2
37	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.84	TGFBR2
38	Increased shRNA abundance (Z-score > 2)	GR00366-A-215	9.84	TGFB2
39	Increased shRNA abundance (Z-score > 2)	GR00366-A-36	9.84	TGFBR1
40	Increased shRNA abundance (Z-score > 2)	GR00366-A-37	9.84	TGFBR1
41	Increased shRNA abundance (Z-score > 2)	GR00366-A-39	9.84	TGFBR2
42	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.84	TGFB2
43	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.84	TGFB2
44	Increased shRNA abundance (Z-score > 2)	GR00366-A-7	9.84	TGFBR2
45	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.84	TGFB2 TGFBR2
46	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.84	TGFBR2
47	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.84	TGFBR1
48	Increased shRNA abundance (Z-score > 2)	GR00366-A-88	9.84	TGFBR1

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 4:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.77	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
2	digestive/alimentary	MP:0005381	9.65	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
3	craniofacial	MP:0005382	9.62	SMAD3 TGFB2 TGFB3 TGFBR2
4	embryo	MP:0005380	9.55	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
5	respiratory system	MP:0005388	9.26	TGFB2 TGFB3 TGFBR1 TGFBR2
6	skeleton	MP:0005390	9.02	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2

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Drugs & Therapeutics for Loeys-Dietz Syndrome 4

Search Clinical Trials , NIH Clinical Center for Loeys-Dietz Syndrome 4

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Genetic Tests for Loeys-Dietz Syndrome 4

Genetic tests related to Loeys-Dietz Syndrome 4:

#	Genetic test	Affiliating Genes
1	Loeys-Dietz Syndrome 4 ²⁹	TGFB2

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Anatomical Context for Loeys-Dietz Syndrome 4

MalaCards organs/tissues related to Loeys-Dietz Syndrome 4:

⁴¹

Skin, Bone, Eye

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Publications for Loeys-Dietz Syndrome 4

Articles related to Loeys-Dietz Syndrome 4:

#	Title	Year
1	Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. ( 27440102 )	2016
2	Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene. ( 24440784 )	2014
3	Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. ( 25163805 )	2014

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Genes for Loeys-Dietz Syndrome 4

Genes related to Loeys-Dietz Syndrome 4 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	1334.82	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301312 22772368 22772371 (more) 25046559
2	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	419.73	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301312
3	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	15.1	DISEASES inferred ¹⁵
4	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	15.02	DISEASES inferred ¹⁵
5	SMAD3	SMAD Family Member 3	Protein Coding	14.65	DISEASES inferred ¹⁵
6	TGFB2-AS1	TGFB2 Antisense RNA 1 (Head To Head)	RNA Gene	8.03	GeneCards inferred via : Variants (show sections)

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Variations for Loeys-Dietz Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Loeys-Dietz Syndrome 4:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	TGFB2	p.Arg299Trp	VAR_068932	rs863223792
2	TGFB2	p.Arg302Cys	VAR_068933	rs869312903
3	TGFB2	p.Pro338His	VAR_068934	rs387907278

ClinVar genetic disease variations for Loeys-Dietz Syndrome 4:

⁶ (show top 50) (show all 212)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TGFB3	NM_003239.4(TGFB3): c.-30G> A	single nucleotide variant	Uncertain significance	rs770828281	GRCh38	Chromosome 14, 75980923: 75980923
2	TGFB3	NM_003239.4(TGFB3): c.-30G> A	single nucleotide variant	Uncertain significance	rs770828281	GRCh37	Chromosome 14, 76447266: 76447266
3	TGFB2	NM_001135599.3(TGFB2): c.771C> A (p.Cys257Ter)	single nucleotide variant	Pathogenic	rs398122885	GRCh37	Chromosome 1, 218607723: 218607723
4	TGFB2	NM_001135599.3(TGFB2): c.771C> A (p.Cys257Ter)	single nucleotide variant	Pathogenic	rs398122885	GRCh38	Chromosome 1, 218434381: 218434381
5	TGFB2	NM_001135599.3(TGFB2): c.1097C> A (p.Pro366His)	single nucleotide variant	Pathogenic	rs387907278	GRCh37	Chromosome 1, 218610765: 218610765
6	TGFB2	NM_001135599.3(TGFB2): c.1097C> A (p.Pro366His)	single nucleotide variant	Pathogenic	rs387907278	GRCh38	Chromosome 1, 218437423: 218437423
7	TGFB2	NM_001135599.3(TGFB2): c.294_308delCTACGCCAAGGAGGT (p.Ala100_Tyr104del)	deletion	Conflicting interpretations of pathogenicity	rs398122883	GRCh37	Chromosome 1, 218520337: 218520351
8	TGFB2	NM_001135599.3(TGFB2): c.294_308delCTACGCCAAGGAGGT (p.Ala100_Tyr104del)	deletion	Conflicting interpretations of pathogenicity	rs398122883	GRCh38	Chromosome 1, 218346995: 218347009
9	TGFB3	NM_003239.4(TGFB3): c.899G> A (p.Arg300Gln)	single nucleotide variant	Likely pathogenic	rs587777617	GRCh37	Chromosome 14, 76429686: 76429686
10	TGFB3	NM_003239.4(TGFB3): c.899G> A (p.Arg300Gln)	single nucleotide variant	Likely pathogenic	rs587777617	GRCh38	Chromosome 14, 75963343: 75963343
11	TGFB2	NM_001135599.2(TGFB2): c.703G> C (p.Val235Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs10482810	GRCh37	Chromosome 1, 218607532: 218607532
12	TGFB2	NM_001135599.2(TGFB2): c.703G> C (p.Val235Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs10482810	GRCh38	Chromosome 1, 218434190: 218434190
13	TGFB3	NM_003239.4(TGFB3): c.559G> A (p.Gly187Ser)	single nucleotide variant	Uncertain significance	rs201063101	GRCh37	Chromosome 14, 76437556: 76437556
14	TGFB3	NM_003239.4(TGFB3): c.559G> A (p.Gly187Ser)	single nucleotide variant	Uncertain significance	rs201063101	GRCh38	Chromosome 14, 75971213: 75971213
15	TGFB3	NM_003239.4(TGFB3): c.487C> T (p.Arg163Trp)	single nucleotide variant	Uncertain significance	rs142601521	GRCh37	Chromosome 14, 76437927: 76437927
16	TGFB3	NM_003239.4(TGFB3): c.487C> T (p.Arg163Trp)	single nucleotide variant	Uncertain significance	rs142601521	GRCh38	Chromosome 14, 75971584: 75971584
17	TGFB3	NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142047577	GRCh38	Chromosome 14, 75980601: 75980601
18	TGFB3	NM_003239.4(TGFB3): c.293C> T (p.Ser98Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142047577	GRCh37	Chromosome 14, 76446944: 76446944
19	TGFB3	NM_003239.4(TGFB3): c.898C> T (p.Arg300Trp)	single nucleotide variant	Pathogenic	rs796051885	GRCh37	Chromosome 14, 76429687: 76429687
20	TGFB3	NM_003239.4(TGFB3): c.898C> T (p.Arg300Trp)	single nucleotide variant	Pathogenic	rs796051885	GRCh38	Chromosome 14, 75963344: 75963344
21	TGFB2	NM_003238.3(TGFB2): c.356C> T (p.Pro119Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149533093	GRCh37	Chromosome 1, 218578520: 218578520
22	TGFB2	NM_003238.3(TGFB2): c.356C> T (p.Pro119Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149533093	GRCh38	Chromosome 1, 218405178: 218405178
23	TGFB2	NM_003238.3(TGFB2): c.895C> T (p.Arg299Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs863223792	GRCh37	Chromosome 1, 218609452: 218609452
24	TGFB2	NM_003238.3(TGFB2): c.895C> T (p.Arg299Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs863223792	GRCh38	Chromosome 1, 218436110: 218436110
25	TGFB3	NM_003239.4(TGFB3): c.521T> A (p.Leu174His)	single nucleotide variant	Uncertain significance	rs869025534	GRCh38	Chromosome 14, 75971251: 75971251
26	TGFB3	NM_003239.4(TGFB3): c.521T> A (p.Leu174His)	single nucleotide variant	Uncertain significance	rs869025534	GRCh37	Chromosome 14, 76437594: 76437594
27	TGFB2	NM_001135599.3(TGFB2): c.297C> A (p.Tyr99Ter)	single nucleotide variant	Pathogenic	rs760759052	GRCh37	Chromosome 1, 218520340: 218520340
28	TGFB2	NM_001135599.3(TGFB2): c.297C> A (p.Tyr99Ter)	single nucleotide variant	Pathogenic	rs760759052	GRCh38	Chromosome 1, 218346998: 218346998
29	TGFB2	NM_001135599.2(TGFB2): c.988C> T (p.Arg330Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs869312903	GRCh37	Chromosome 1, 218609461: 218609461
30	TGFB2	NM_001135599.2(TGFB2): c.988C> T (p.Arg330Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs869312903	GRCh38	Chromosome 1, 218436119: 218436119
31	TGFB2	NM_001135599.3(TGFB2): c.1106_1110delACAAT (p.Tyr369Cysfs)	deletion	Pathogenic	rs398122884	GRCh37	Chromosome 1, 218610774: 218610778
32	TGFB2	NM_001135599.3(TGFB2): c.1106_1110delACAAT (p.Tyr369Cysfs)	deletion	Pathogenic	rs398122884	GRCh38	Chromosome 1, 218437432: 218437436
33	covers 21 genes, none of which curated to show dosage sensitivity	NC_000001.10: g.(215588712_?)_(?_222145072)del	deletion	Pathogenic		GRCh37	Chromosome 1, 215588712: 222145072
34	TGFB2	NC_000001.10: g.(216672181_?)_(?_220202575)del	deletion	Pathogenic		GRCh37	Chromosome 1, 216672181: 220202575
35	TGFB2	NM_001135599.3(TGFB2): c.594+38_594+43dupGTTGTT	duplication	Conflicting interpretations of pathogenicity	rs10482769	GRCh38	Chromosome 1, 218405370: 218405375
36	TGFB2	NM_001135599.3(TGFB2): c.594+38_594+43dupGTTGTT	duplication	Conflicting interpretations of pathogenicity	rs10482769	GRCh37	Chromosome 1, 218578712: 218578717
37	TGFB3	NM_003239.4(TGFB3): c.1122C> G (p.Ala374=)	single nucleotide variant	Benign/Likely benign	rs4252345	GRCh37	Chromosome 14, 76425647: 76425647
38	TGFB3	NM_003239.4(TGFB3): c.1122C> G (p.Ala374=)	single nucleotide variant	Benign/Likely benign	rs4252345	GRCh38	Chromosome 14, 75959304: 75959304
39	TGFB3	NM_003239.4(TGFB3): c.873G> A (p.Pro291=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs370006165	GRCh37	Chromosome 14, 76429712: 76429712
40	TGFB3	NM_003239.4(TGFB3): c.873G> A (p.Pro291=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs370006165	GRCh38	Chromosome 14, 75963369: 75963369
41	TGFB3	NM_003239.4(TGFB3): c.744C> A (p.Ile248=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45477900	GRCh37	Chromosome 14, 76431941: 76431941
42	TGFB3	NM_003239.4(TGFB3): c.744C> A (p.Ile248=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs45477900	GRCh38	Chromosome 14, 75965598: 75965598
43	TGFB3	NM_003239.4(TGFB3): c.420G> A (p.Glu140=)	single nucleotide variant	Likely benign	rs878854609	GRCh38	Chromosome 14, 75971651: 75971651
44	TGFB3	NM_003239.4(TGFB3): c.420G> A (p.Glu140=)	single nucleotide variant	Likely benign	rs878854609	GRCh37	Chromosome 14, 76437994: 76437994
45	TGFB3	NM_003239.4(TGFB3): c.412T> G (p.Ser138Ala)	single nucleotide variant	Uncertain significance	rs201453600	GRCh38	Chromosome 14, 75971659: 75971659
46	TGFB3	NM_003239.4(TGFB3): c.412T> G (p.Ser138Ala)	single nucleotide variant	Uncertain significance	rs201453600	GRCh37	Chromosome 14, 76438002: 76438002
47	TGFB3	NM_003239.4(TGFB3): c.357A> G (p.Glu119=)	single nucleotide variant	Likely benign	rs748598952	GRCh38	Chromosome 14, 75971714: 75971714
48	TGFB3	NM_003239.4(TGFB3): c.357A> G (p.Glu119=)	single nucleotide variant	Likely benign	rs748598952	GRCh37	Chromosome 14, 76438057: 76438057
49	TGFB3	NM_003239.4(TGFB3): c.179C> T (p.Thr60Met)	single nucleotide variant	Likely benign	rs4252315	GRCh38	Chromosome 14, 75980715: 75980715
50	TGFB3	NM_003239.4(TGFB3): c.179C> T (p.Thr60Met)	single nucleotide variant	Likely benign	rs4252315	GRCh37	Chromosome 14, 76447058: 76447058

Sources

Expression for Loeys-Dietz Syndrome 4

Search GEO for disease gene expression data for Loeys-Dietz Syndrome 4.

Sources

Pathways for Loeys-Dietz Syndrome 4

Pathways related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show top 50) (show all 67)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.6	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
2	GPCR Pathway ⁶⁴ Show member pathways Breast Cancer Regulation by Stathmin1 ⁶⁴ Estrogen Pathway ⁶⁴ NFAT in Immune Response ⁶⁴ P2Y Receptor Signaling ⁶⁴ Pancreatic Adenocarcinoma ⁶⁴ Paxillin Interactions ⁶⁴ Ras Pathway ⁶⁴	13.48	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
3	PEDF Induced Signaling ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Cytokine-cytokine receptor interaction ³⁷ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Mediated Glucocorticoid Regulation ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.45	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
4	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.35	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
5	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.33	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
6	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.17	TGFB2 TGFB3 TGFBR1 TGFBR2
7	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.14	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
8	Human cytomegalovirus infection ³⁷ Show member pathways Hepatitis B ³⁷ Human immunodeficiency virus 1 infection ³⁷ Kaposi sarcoma-associated herpesvirus infection ³⁷	12.89	SMAD3 TGFB2 TGFB3 TGFBR1
9	Toll-like Receptor Signaling Pathway ³⁷ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁷ NOD-like receptor signaling pathway ³⁷ NOD-like Receptor Signaling Pathways ⁶⁵ Regulation of toll-like receptor signaling pathway ¹	12.89	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
10	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.78	TGFB2 TGFB3 TGFBR1 TGFBR2
11	Endometrial cancer ³⁷ Show member pathways Acute myeloid leukemia ³⁷ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁶ Chronic myeloid leukemia ³⁷ Colorectal cancer ³⁷ Pancreatic cancer ³⁷ Prostate cancer ³⁷ Signal transduction PTEN pathway ²² Thyroid cancer ³⁷	12.77	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
12	Pathways in cancer ³⁷	12.74	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
13	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.73	TGFB2 TGFB3 TGFBR1 TGFBR2
14	Gastric cancer ³⁷ Show member pathways Breast cancer ³⁷ Hepatocellular carcinoma ³⁷	12.66	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
15	MAPK signaling pathway ³⁷ ¹	12.65	TGFB2 TGFB3 TGFBR1 TGFBR2
16	Deubiquitination ⁶⁶ Show member pathways Ub-specific processing proteases ⁶⁶	12.63	SMAD3 TGFBR1 TGFBR2
17	Th17 cell differentiation ³⁷ Show member pathways IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²² Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	12.51	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
18	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.45	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
19	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.4	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
20	Human T-cell leukemia virus 1 infection ³⁷	12.35	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
21	Endocytosis ³⁷	12.27	SMAD3 TGFBR1 TGFBR2
22	Cell cycle ¹ ³⁷	12.24	SMAD3 TGFB2 TGFB3
23	Wnt / Hedgehog / Notch ⁴	12.2	SMAD3 TGFB2 TGFB3 TGFBR1
24	Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer ⁶⁶ Show member pathways Downregulation of SMAD2/3-SMAD4 transcriptional activity ⁶⁶ Interactions of Tat with host cellular proteins ⁶⁶ Signaling by TGF-beta Receptor Complex ⁶⁶ SMAD2/SMAD3-SMAD4 heterotrimer regulates transcription ⁶⁶ TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) ⁶⁶	12.18	SMAD3 TGFBR1 TGFBR2
25	Cell cycle Role of SCF complex in cell cycle regulation ²² Show member pathways Cell cycle ESR1 regulation of G1/S transition ²² Cell cycle Regulation of G1/S transition (part 1) ²² Immune response MIF-JAB1 signaling ²²	12.18	SMAD3 TGFB2 TGFBR1 TGFBR2
26	Immune response IFN alpha/beta signaling pathway ²² Show member pathways Cytokine Network ⁶⁴ Interferon alpha/beta signaling ⁶⁶ Regulation of IFNA signaling ⁶⁶	12.11	TGFB2 TGFB3 TGFBR1
27	Colorectal Cancer Metastasis ⁶⁴	12.09	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
28	Cellular senescence (KEGG) ³⁷	12.06	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
29	Transcription Androgen Receptor nuclear signaling ²² Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²²	12.03	SMAD3 TGFBR1 TGFBR2
30	Hippo signaling pathway ³⁷	12.02	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
31	TGF-beta Signaling Pathway (WikiPathways) ¹	11.99	SMAD3 TGFBR1 TGFBR2
32	Immune response IFN gamma signaling pathway ²² Show member pathways IFN-gamma pathway ¹	11.99	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
33	SMAD Signaling Network ⁶⁴	11.99	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
34	Osteoclast differentiation ³⁷	11.97	TGFB2 TGFBR1 TGFBR2
35	FoxO signaling pathway ³⁷ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.94	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
36	Th1 Differentiation Pathway ⁶⁵ Show member pathways IL27-mediated signaling events ¹ Th17 Differentiation Pathway ⁶⁵	11.88	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
37	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.82	SMAD3 TGFBR1 TGFBR2
38	Angiogenesis (CST) ⁴	11.8	TGFB2 TGFB3 TGFBR1
39	Loss of Function of SMAD2/3 in Cancer ⁶⁶ Show member pathways BMP Signalling Pathway ¹ Canonical and Non-Canonical TGF-B signaling ¹ Loss of Function of SMAD4 in Cancer ⁶⁶ Loss of Function of TGFBR1 in Cancer ⁶⁶ Loss of Function of TGFBR2 in Cancer ⁶⁶ SMAD2/3 MH2 Domain Mutants in Cancer ⁶⁶ SMAD2/3 Phosphorylation Motif Mutants in Cancer ⁶⁶ SMAD4 MH2 Domain Mutants in Cancer ⁶⁶ TGFBR1 KD Mutants in Cancer ⁶⁶ TGFBR1 LBD Mutants in Cancer ⁶⁶ TGFBR2 Kinase Domain Mutants in Cancer ⁶⁶ TGFBR2 MSI Frameshift Mutants in Cancer ⁶⁶	11.73	SMAD3 TGFBR1 TGFBR2
40	Adherens junction ³⁷	11.7	SMAD3 TGFBR1 TGFBR2
41	Development_TGF-beta receptor signaling ²²	11.7	SMAD3 TGFBR1 TGFBR2
42	TGF-beta receptor signaling activates SMADs ⁶⁶ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁶ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁶	11.68	SMAD3 TGFBR1 TGFBR2
43	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.65	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
44	Transcription_P53 signaling pathway ²²	11.63	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
45	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.6	TGFB2 TGFB3
46	Microglia Activation During Neuroinflammation: Microglia Polarization ⁶⁵	11.59	TGFB2 TGFB3
47	TGF-beta Receptor Signaling (WikiPathways) ¹	11.59	SMAD3 TGFBR1 TGFBR2
48	TGF-beta receptor signaling (Pathway Interaction Database) ¹	11.54	SMAD3 TGFB3 TGFBR1 TGFBR2
49	TGF-beta Signaling Pathways ⁶⁵	11.54	SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
50	P38 MAPK Signaling Pathway (sino) ⁶⁷	11.52	TGFB2 TGFB3

Sources

GO Terms for Loeys-Dietz Syndrome 4

Cellular components related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	platelet alpha granule lumen	GO:0031093	9.16	TGFB2 TGFB3
2	receptor complex	GO:0043235	9.13	SMAD3 TGFBR1 TGFBR2
3	transforming growth factor beta receptor complex	GO:0070022	8.62	TGFBR1 TGFBR2

Biological processes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

(show top 50) (show all 60)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell proliferation	GO:0008284	9.93	TGFB2 TGFB3 TGFBR1 TGFBR2
2	negative regulation of cell proliferation	GO:0008285	9.9	SMAD3 TGFB2 TGFB3 TGFBR2
3	heart development	GO:0007507	9.84	TGFB2 TGFBR1 TGFBR2
4	regulation of cell proliferation	GO:0042127	9.83	TGFB2 TGFB3 TGFBR2
5	skeletal system development	GO:0001501	9.82	SMAD3 TGFB2 TGFBR1
6	cell cycle arrest	GO:0007050	9.8	SMAD3 TGFB2 TGFBR1
7	in utero embryonic development	GO:0001701	9.8	SMAD3 TGFB3 TGFBR1 TGFBR2
8	response to hypoxia	GO:0001666	9.76	SMAD3 TGFB2 TGFB3 TGFBR2
9	SMAD protein signal transduction	GO:0060395	9.74	SMAD3 TGFB2 TGFB3
10	positive regulation of cell growth	GO:0030307	9.73	TGFB2 TGFBR1
11	regulation of growth	GO:0040008	9.73	TGFBR1 TGFBR2
12	pattern specification process	GO:0007389	9.72	TGFBR1 TGFBR2
13	response to estrogen	GO:0043627	9.72	TGFB3 TGFBR2
14	peptidyl-threonine phosphorylation	GO:0018107	9.72	TGFBR1 TGFBR2
15	cellular response to transforming growth factor beta stimulus	GO:0071560	9.72	SMAD3 TGFBR1
16	cell development	GO:0048468	9.72	TGFB2 TGFB3
17	positive regulation of stress fiber assembly	GO:0051496	9.72	SMAD3 TGFB3 TGFBR1
18	heart looping	GO:0001947	9.71	SMAD3 TGFBR2
19	regulation of MAPK cascade	GO:0043408	9.71	TGFB2 TGFB3
20	inner ear development	GO:0048839	9.71	TGFB2 TGFB3
21	positive regulation of cell division	GO:0051781	9.71	TGFB2 TGFB3
22	collagen fibril organization	GO:0030199	9.71	TGFB2 TGFBR1
23	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	9.71	TGFB2 TGFB3 TGFBR1
24	extrinsic apoptotic signaling pathway	GO:0097191	9.7	SMAD3 TGFB2
25	positive regulation of protein secretion	GO:0050714	9.7	TGFB2 TGFB3
26	epithelial to mesenchymal transition	GO:0001837	9.7	TGFB2 TGFBR1
27	lens development in camera-type eye	GO:0002088	9.7	TGFBR1 TGFBR2
28	positive regulation of epithelial cell migration	GO:0010634	9.69	TGFB2 TGFBR2
29	gastrulation	GO:0007369	9.69	SMAD3 TGFBR2
30	response to progesterone	GO:0032570	9.69	TGFB2 TGFB3
31	ventricular septum morphogenesis	GO:0060412	9.69	TGFB2 TGFBR1 TGFBR2
32	digestive tract development	GO:0048565	9.68	TGFB3 TGFBR2
33	odontogenesis	GO:0042476	9.68	TGFB2 TGFB3
34	positive regulation of bone mineralization	GO:0030501	9.68	SMAD3 TGFB3
35	positive regulation of filopodium assembly	GO:0051491	9.68	TGFB3 TGFBR1
36	outflow tract septum morphogenesis	GO:0003148	9.67	TGFB2 TGFBR2
37	positive regulation of pri-miRNA transcription by RNA polymerase II	GO:1902895	9.67	SMAD3 TGFB2
38	transmembrane receptor protein serine/threonine kinase signaling pathway	GO:0007178	9.66	TGFBR1 TGFBR2
39	activin receptor signaling pathway	GO:0032924	9.66	SMAD3 TGFBR1
40	ventricular trabecula myocardium morphogenesis	GO:0003222	9.65	TGFB2 TGFBR1
41	embryonic cranial skeleton morphogenesis	GO:0048701	9.65	SMAD3 TGFBR1 TGFBR2
42	cardiac epithelial to mesenchymal transition	GO:0060317	9.64	TGFB2 TGFBR1
43	atrioventricular valve morphogenesis	GO:0003181	9.64	TGFB2 TGFBR2
44	positive regulation of SMAD protein signal transduction	GO:0060391	9.63	TGFB3 TGFBR1
45	membranous septum morphogenesis	GO:0003149	9.62	TGFB2 TGFBR2
46	negative regulation of transforming growth factor beta receptor signaling pathway	GO:0030512	9.62	SMAD3 TGFB3 TGFBR1 TGFBR2
47	response to cholesterol	GO:0070723	9.61	TGFBR1 TGFBR2
48	salivary gland morphogenesis	GO:0007435	9.61	TGFB2 TGFB3
49	cell-cell junction organization	GO:0045216	9.61	SMAD3 TGFB2 TGFB3
50	negative regulation of macrophage cytokine production	GO:0010936	9.59	TGFB2 TGFB3

Molecular functions related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein heterodimerization activity	GO:0046982	9.65	SMAD3 TGFB2 TGFB3
2	SMAD binding	GO:0046332	9.5	SMAD3 TGFBR1 TGFBR2
3	growth factor binding	GO:0019838	9.46	TGFBR1 TGFBR2
4	transforming growth factor beta-activated receptor activity	GO:0005024	9.43	TGFBR1 TGFBR2
5	transmembrane receptor protein serine/threonine kinase activity	GO:0004675	9.4	TGFBR1 TGFBR2
6	type I transforming growth factor beta receptor binding	GO:0034713	9.37	TGFB3 TGFBR2
7	transforming growth factor beta receptor binding	GO:0005160	9.33	SMAD3 TGFB2 TGFB3
8	type III transforming growth factor beta receptor binding	GO:0034714	9.26	TGFB2 TGFB3
9	transforming growth factor beta binding	GO:0050431	9.13	TGFB3 TGFBR1 TGFBR2
10	type II transforming growth factor beta receptor binding	GO:0005114	8.8	TGFB2 TGFB3 TGFBR1

Sources

Sources for Loeys-Dietz Syndrome 4

¹ BioSystems

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Loeys-Dietz Syndrome 4 (LDS4)

Aliases & Classifications for Loeys-Dietz Syndrome 4

MalaCards integrated aliases for Loeys-Dietz Syndrome 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Loeys-Dietz Syndrome 4

Related Diseases for Loeys-Dietz Syndrome 4

Diseases in the Loeys-Dietz Syndrome family:

Diseases related to Loeys-Dietz Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Loeys-Dietz Syndrome 4:

Symptoms & Phenotypes for Loeys-Dietz Syndrome 4

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Loeys-Dietz Syndrome 4:

UMLS symptoms related to Loeys-Dietz Syndrome 4:

GenomeRNAi Phenotypes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Loeys-Dietz Syndrome 4:

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ClinVar genetic disease variations for Loeys-Dietz Syndrome 4:

Expression for Loeys-Dietz Syndrome 4

Pathways for Loeys-Dietz Syndrome 4

Pathways related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

GO Terms for Loeys-Dietz Syndrome 4

Cellular components related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

Biological processes related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

Molecular functions related to Loeys-Dietz Syndrome 4 according to GeneCards Suite gene sharing:

Sources for Loeys-Dietz Syndrome 4